Isolated agammaglobulinemia

General Information (adopted from Orphanet):

Synonyms, Signs: Isolated hypogammaglobulinemia
Number of Symptoms 33
OrphanetNr: 229717
OMIM Id: 300310
300755
601495
612692
613500
613501
613502
613506
615214
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Agammaglobulinemia
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0001999) Abnormal facial shape Occasional [Orphanet] 169 / 7739
2
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
3
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
4
 (HPO:0000389) Chronic otitis media Very frequent [Orphanet] 64 / 7739
5
 (HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
6
 (HPO:0100769) Synovitis Occasional [Orphanet] 86 / 7739
7
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
8
 (HPO:0002014) Diarrhea Very frequent [Orphanet] 225 / 7739
9
 (HPO:0005215) Frequent Giardia lamblia infestation 2 / 7739
10
 (HPO:0003003) Colon cancer 20 / 7739
11
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
12
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
13
 (HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
14
 (HPO:0100838) Recurrent cutaneous abscess formation Very frequent [Orphanet] 15 / 7739
15
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
16
 (HPO:0004432) Agammaglobulinemia 17 / 7739
17
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
18
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
19
 (HPO:0001874) Abnormality of neutrophils Frequent [Orphanet] 47 / 7739
20
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
21
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
22
 (HPO:0001954) Episodic fever 27 / 7739
23
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
24
 (HPO:0100765) Abnormality of the tonsils Occasional [Orphanet] 10 / 7739
25
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
26
 (HPO:0100806) Sepsis Occasional [Orphanet] 48 / 7739
27
 (HPO:0002960) Autoimmunity Occasional [Orphanet] 78 / 7739
28
 (HPO:0100763) Abnormality of the lymphatic system Frequent [Orphanet] 18 / 7739
29
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
30
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
31
 (HPO:0003549) Abnormality of connective tissue Occasional [Orphanet] 22 / 7739
32
 (HPO:0001417) X-linked inheritance 173 / 7739
33
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: